The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr...

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Published inArquivos de neuro-psiquiatria Vol. 79; no. 8; pp. 743 - 747
Main Authors NOVIS, Luiz Eduardo, SPITZ, Mariana, TEIVE, Hélio A. G.
Format Journal Article
LanguageEnglish
Portuguese
Published Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Thieme Revinter Publicações Ltda 01.08.2021
Arquivos de Neuro-Psiquiatria
Academia Brasileira de Neurologia - ABNEURO
Academia Brasileira de Neurologia (ABNEURO)
Subjects
ALS8
Amyotrophic lateral sclerosis
Genotypes
Historical Note
Motor neuron diseases
NEUROSCIENCES
Phenotypes
PSYCHIATRY
Spinal muscular atrophy
VAPB gene
VAPB gene
esclerose lateral amiotrófica
gene VAPB
amyotrophic lateral sclerosis
Atrofia muscular espinhal
ALS8
ELA8
Spinal muscular atrophy
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Summary:ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0004-282X
1678-4227
1678-4227
DOI:10.1590/0004-282X-ANP-2020-0548